A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome

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Oxford University Press

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Infantile onset Vanishing White Matter disease associated with a novel EIF2B5 variant, remarkably long life span, severe epilepsy, and hypopituitarism

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Novel KCNQ3 Mutation in a Large Family with Benign Familial Neonatal Epilepsy: A Rare Cause of Neonatal Seizures

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Identification of a premature stop codon mutation in the PHGDH gene in severe Neu‐Laxova syndrome—evidence for phenotypic variability

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Severe epilepsy resulting from genetic interaction between Scn2a and Kcnq2

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